Gaucher disease is caused by a deficiency of glucocerebrosidase. Patients with Gaucher disease are divided into three major phenotypes: chronic nonneuronopathic, acute neuronopathic, and chronic neuronopathic, based on symptoms of the nervous system, the severity of symptoms, and the age of disease onset. The characteristics of patients with acute neuronopathic- and chronic neuronopathic-type Gaucher disease include oculomotor abnormalities, bulbar signs, limb rigidity, seizures and occasional choreoathetoid movements, and neuronal loss. However, the mechanisms leading to the neurodegeneration of this disorder remain unknown. To investigate brain dysfunction in Gaucher disease, we studied the possible role of inflammation in neurodegeneration during development of Gaucher disease in a mouse model. Elevated levels of the proinflammatory cytokines, IL-1alpha, IL-1beta, IL-6, and TNF-alpha, were detected in the fetal brains of Gaucher mice. Moreover, the levels of secreted nitric oxide and reactive oxygen species in the brains of Gaucher mice were higher than in wild-type mice. Thus, accumulated glucocerebroside or glucosylsphingosine, caused by glucocerebrosidase deficiency, may mediate brain inflammation in the Gaucher mouse via the elevation of proinflammatory cytokines, nitric oxide, and reactive oxygen species.
Up-Regulation/genetics ; Tumor Necrosis Factor-alpha/genetics/secretion ; Reverse Transcriptase Polymerase Chain Reaction ; Reactive Oxygen Species/metabolism ; RNA, Messenger/genetics/metabolism ; Nitric Oxide/metabolism ; Microglia/cytology/metabolism ; Mice, Knockout ; Mice, Inbred ICR ; Mice, Inbred C57BL ; Mice ; Interleukin-6/genetics/secretion ; Interleukin-1/genetics/secretion ; Inflammation/immunology ; Glucosylceramidase/genetics ; Gaucher Disease/*genetics/metabolism/pathology ; Cytokines/*genetics/immunology/secretion ; Cells, Cultured ; Brain/embryology/*metabolism/pathology ; Animals

No abstract available.
Angiogenesis Inducing Agents* ; Intracranial Aneurysm*

The first description on the discoid meniscus was made by Young in 1889 and was known as it affects only the lateral meniscus for a long time. However, Cave and Staples had reported the two cases of discoid changes on medial meniscus in 1941. Smillie(1948) had stated that the menisci exist as cartilagenous discs at an early stage of fetus and remain in discoid shape congenitally. Kaplan(1957) reported that the discoid meniscus is not caused by congenitally but acquired in relation of joint motion. A clinical analysis is made on the 22 discoid meniscus which were removed surgically and summarized as follows: 1. The click sound on walking, tenderness and positive McMurray test were important as diagnostic criteria and were present all of the cases. 2. The most of the discoid meniscus were found in first and second decade in 13 cases(76.5%) out of 22. The five cases were bilateral. 3. The discoid change of the meniscus had no sex defferences in their incidence but lateral involvement were far superior than in ten times. 4. The discoid meniscus shows degenerative change microscopically 17(77.3%). 5. The clinical result of surgical removal of discoid meniscus was satisfactory in resuming their full activities in six weeks.
Clinical Study ; Fetus ; Incidence ; Joints ; Menisci, Tibial ; Walking

The authors report their experience with 22 cases of intracranial suppuration : 18 with brain abscess and four with subdural empyema. A small series of nine consecutive cases of intracranial suppuraion with one death is presented since Computed Tomographic brain scanning become a routine diagnostic procedure. These patient have been compared to 13 consecutive cases treated without benefit of CT analysis in order to determine the factors responsible for the recently improved prognosis. The mortality rate was 30.8% for al operated patients treated before availability of CT and 22.7% for the patient since advent of CT scan. Among the factors that may have contributed to the improved results for patients diagnosed with CT are : fewer patients with poor preperative clinical status, and a great incidence of total abscess removal. In addition, CT scanning provided more accurate diagnosis and localization of abscess and aided in the rapid detection of postoperative complication.
Abscess ; Brain ; Brain Abscess ; Diagnosis ; Empyema, Subdural ; Humans ; Incidence ; Mortality ; Postoperative Complications ; Prognosis ; Suppuration* ; Tomography, X-Ray Computed

Background: and PurposePathogenic variants in B4GALNT1 have been reported to cause hereditary spastic paraplegia 26. This study has revealed that a novel compound heterozygous pathogenic variant in B4GALNT1 is associated with axonal Charcot-Marie-Tooth disease (CMT). Methods: Whole-exome sequencing (WES) was used to identify the causative factors and characterize the clinical features of a Korean family with sensorimotor polyneuropathy. Functional assessment of the mutant genes was performed using a motor neuron cell line. Results: The WES revealed a compound heterozygous pathogenic variant (c.128dupC and c.451G>A) in B4GALNT1 as the causative of the present patient, a 53-year-old male who presented with axonal sensorimotor polyneuropathy and cognitive impairment without spasticity. The electrodiagnostic study showed axonal sensorimotor polyneuropathy. B4GALNT1 was critical to the proliferation of motor neuron cells. The compensation assay revealed that the pathogenic variants might affect the enzymatic activity of B4GALNT1. Conclusions This study is the first to identify a case of autosomal recessive axonal CMT associated with a compound heterozygous pathogenic variant in B4GALNT1. This finding expands the clinical and genetic spectra of peripheral neuropathy.

Background: and PurposePathogenic variants in B4GALNT1 have been reported to cause hereditary spastic paraplegia 26. This study has revealed that a novel compound heterozygous pathogenic variant in B4GALNT1 is associated with axonal Charcot-Marie-Tooth disease (CMT). Methods: Whole-exome sequencing (WES) was used to identify the causative factors and characterize the clinical features of a Korean family with sensorimotor polyneuropathy. Functional assessment of the mutant genes was performed using a motor neuron cell line. Results: The WES revealed a compound heterozygous pathogenic variant (c.128dupC and c.451G>A) in B4GALNT1 as the causative of the present patient, a 53-year-old male who presented with axonal sensorimotor polyneuropathy and cognitive impairment without spasticity. The electrodiagnostic study showed axonal sensorimotor polyneuropathy. B4GALNT1 was critical to the proliferation of motor neuron cells. The compensation assay revealed that the pathogenic variants might affect the enzymatic activity of B4GALNT1. Conclusions This study is the first to identify a case of autosomal recessive axonal CMT associated with a compound heterozygous pathogenic variant in B4GALNT1. This finding expands the clinical and genetic spectra of peripheral neuropathy.

Gastrointestinal stromal tumors (GISTs) are the most common primary mesenchymal tumors of the digestive tract. They have been commonly observed in adults but have been rarely described in children. They arise typically from the intestinal wall and rarely in the mesentery, omentum, or retroperitoneum. GISTs originate from the interstitial cell of Cajal and are characterized by overexpression of the receptor tyrosine kinase c-kit. Up to 94% of these tumors express the CD117 on immunohistochemical stain. Surgery is the main modality of treatment for primary resectable GIST. Completely resectable GIST with low risk has excellent prognosis after primary surgical intervention, with over 90% of the 5-year survival. We report a case of 10-year-old girl presenting with an upper gastrointestinal bleeding caused by gastrointestinal stromal tumor.
Adult ; Child* ; Female ; Gastrointestinal Stromal Tumors* ; Gastrointestinal Tract ; Hemorrhage ; Humans ; Mesentery ; Omentum ; Prognosis ; Protein-Tyrosine Kinases

OBJECTS: Type D indirect carotid cavernous fistulas(CCFs) have been known to be challenging and problematic in its treatment. We present three cases of type D indirect CCFs treated successfully by transvenous balloon embolization through the superior ophthalmic vein (SOV) and radiotherapy. MATERIAL AND METHODS: All of these patients presented with proptosis, chemosis, diplopia and elevated intraocular pressure. The duration of symptoms until treatment of the these patients was 3 months, 4 months and 4 years respectively. Of these patients, two patients were treated successfully by transvenous balloon embolization through the ipsilateral SOV into the cavernous sinus and one patient, had previously been treated unsuccessfully by transvenous embolization via the SOV, was treated by radiotherapy delivering 3600 cGy. RESULTS: All patients had complete resolution of symptoms and signs after the treatments. There were no intraoperative complication, however, two patients who were treated by transvenous embolization via the SOV had transient oculomotor nerve palsy which had improved completely later. None of the three patients developed recurrent symptoms and signs suggesting recurrence of the fistula during a follow-up period that ranged from 12 months to 25 months. CONCLUSION: We think that transvenous embolization through the SOV and radiotherapy can be a safe and successful means of treating type D indirect CCFs.
Balloon Occlusion ; Cavernous Sinus ; Diplopia ; Exophthalmos ; Fistula ; Follow-Up Studies ; Humans ; Intraocular Pressure ; Intraoperative Complications ; Oculomotor Nerve Diseases ; Radiotherapy ; Recurrence ; Veins

OBJECTIVES: Surgical experiences of pseudoaneurysms such as traumatic, mycotic and ill-defined unknown causes of aneurysms are rare. The authors have studied the results of surgical management from such cases in our series. PATIENTS AND METHOD: In the last 17 years, 1320 patients with cerebrovascular aneurysms were managed surgically. Among these, 16 patients showed the pseudoaneurysms. The authors analyzed retrospectively the clinical characteristics, treatment methods, management outcomes and problems in the managements. RESULTS: There were 6 patients with traumatic aneurysm, 4 mycotic aneurysms and 6 ill-defined unknown causes of aneurysm. The sites of traumatic aneurysms were cavernous portion of the internal carotid artery(n=3), distal portion of the anterior cerebral artery (n=2) and vertebral artery(VA: n=1). Good outcomes in 5 cases could be obtained by extracranial - intracranial bypass followed by parent vessel occlusion or resection of aneurysm followed by re-anast-omosis of parent vessel. The sites of mycotic aneurysm were peripheral portions of middle cerebral artery(MCA: n=3) and posterior cerebral artery(PCA: n=1). The outcomes of the patients with a mycotic aneurysm were relatively poor. It was partially due to the development of new aneurysm after treatment in one. The sites of ill-defined unknown causes of aneurysm were extracranial carotid artery(n=3), V2 portion of the VA(n=1), peripheral portion of the PCA (n=1) and MCA(n=1). Good outcome in all cases could be obtained by resection of aneurysm with or without saphenous vein graft. CONCLUSION: For the treatments of cerebrovascular pseudoaneurysm, combinations of aggressive medical, endovascular and surgical managements seem mandatory. Insertion of stent for a extracranial carotid artery aneurysm and coiling for a peripheral mycotic aneurysm can be option in future.
Aneurysm ; Aneurysm, False* ; Aneurysm, Infected ; Anterior Cerebral Artery ; Carotid Arteries ; Humans ; Parents ; Passive Cutaneous Anaphylaxis ; Retrospective Studies ; Saphenous Vein ; Stents ; Transplants

Malignant schwannoma is a relatively rare malignant neoplasm arising from schwann cell of neuroectodermal origin that infiltrate locally and widely, and metastases. Inreaosseous bone involvement or retroperitoneal location of this tumor is extremely rare. A rare case of solitary malignant schwannoma which originated in the sacrum and extended to the retroperitoneal space in a 34 year-old male without neurofibromatosis reported. Simple X-ray showed not sclerotic, smooth marginated lytic defect in the right sacral bone. Computed tomography(CT) of sacrum revealed homogenous soft mass with intraosseous and dumbel shaped retroperitoneal extension without enhancement after were appeared in serial iliac artery angiogram. We could remove the tumor mass without specific technical difficulty with the help of CT and angiographic findings.
Adult ; Humans ; Iliac Artery ; Male ; Neoplasm Metastasis ; Neural Plate ; Neurilemmoma* ; Neurofibromatoses ; Retroperitoneal Space ; Sacrum*